Resumo de Current Management In Child Neurology/down Syndrome

The first comprehensive description of the condition was provided by John Langdon Down in 1866 when appointed as a medical superintendent of the Eastwood Asylum for idiots at Redhill, Surrey, England.He noted that many of his patients had similar clinical features and the resemblence to each other was so much that when placed side by side it was difficult to believe that they were not the children of the same parents.For about 100 years the term ?Mongolism? was used as the primary descriptive name for Down Syndrome with the eponyms Down and Langdon-Down used as alternatives, the hyphenated form having been preferred by Down in his later life. However controversy eventually arose because some regarded the reference to the Mongol ethnic Group as insulting and the World Health Organization abandoned the term ?Mongolism? and the eponym Down Syndrome was adopted.

Down Syndrome most often results from complete trisomy of Chromosome 21 ,due to nondysjunction during gamete formation. A small number of cases result from either complete or partial translocation of Chromosome 21 to another Chromosome(usually in the G or D group).

A presumptive diagnosis of Down Syndrome is made by the Physician or hospital staff shortly after birth.A Karyotype performed on blood lymphocytes or skin fibroblasts is mandatory to confirm the diagnosis,even in those cases where the appearance is obvious.

After diagnosis, the clinical evaluation includes the associated medical conditions, neurodevelopmental status and the behavioral or psychiatric conditions.

A variety of congenital and acquired medical problems are associated with Down Syndrome which are best categorized according to chronologic age. Because of high incidence of certain medical conditions ,screening of asymptomatic individuals at regular intervals is strongly recommended.

In the newborn period congenital heart disease , gastrointestinal tract anomalies congenital cataract and congenital hypothyroidism occur in about 40-60% , 6-12% ,2-4% and 1-2% of newborns respectively .

In infancy incidence of viral and bacterial infections of the respiratory tract is high.A number of opthermological conditios may present during the first year of life including squint (23 to 44%), refractive errors(35 to 40%), Nystagmus(5 to 30%) etc.

During childhood disorders of thyroid functions are particularly common. There is high incidence of transient conductive hearing loss(more than 50% in children).Obstructive sleep apnea is noted in 30% of children. Down Syndrome is also associated with approximately 2% of all cases of acute leukemia in children. They are also susceptible to subluxation of the hips, patella and cervical spine.

During adolescence a reduction of linear growth rates and a tendency towards excessive weight gain relative to height is also evident. Reports of reduced sperm counts and lack of mature sperm in males leads to the conclusion that most males are infertile. Females of hild bearing age in contrast should be considered fertile and require educational instruction about menstrual care and reproduction and access to routine Gynecologic care.

Neuromotor dysfunction is characteristic of most newborns with Down Syndrome.During infancy delay in the acquisition of gross motor milestones is usually obvious to physicians and parents during the first year. Significant neuromotor dysfunction persists through out the first few years of life but tents to improve with increase in chronologic age and rarely presents a serious remetation for older children. Most children with Down Syndrome test in the low-mild to moderate range of mental retardation by the time they enter elementary school at five to six years of age. Most children will make developmental progress so it is important to document and comment upon the positive developmental gains during this time.

20 to 40% of children and adolescents with Down Syndrome may be diagnosed with a co-morbid behavioral or psychiatric dissorder. Disruptive disorders are seen in about 16% while repetitive behaviors and autistic disorders are seen in about 5%.

Children with Down Syndrome today are living healthier lives than those born in previous decades. Social advocacy by parents and increased awareness of related medical conditions mean that persons with Down Syndrome are living longer and have more productive lives.

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